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Reviewed July 2008
What is the official name of the COL11A1 gene?
The official name of this gene is “collagen, type XI, alpha 1.”
COL11A1 is the gene's official symbol. The COL11A1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the COL11A1 gene?
The COL11A1 gene provides instructions for making one component of type XI collagen, called the pro-alpha1(XI) chain. Type XI collagen adds structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type XI collagen is normally found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the clear gel that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus).
The pro-alpha1(XI) chain combines with two other collagen chains (pro-alpha2(XI) and pro-alpha1(II)) to form a procollagen molecule. These triple-stranded, ropelike procollagen molecules are then processed by enzymes in the cell. Once processed, procollagen molecules leave the cell and arrange themselves into long, thin fibrils that link to one another (cross-link) in the spaces around cells. The cross-linkages result in the formation of very strong mature type XI collagen fibers.
Type XI collagen also helps maintain the spacing and diameter of type II collagen fibrils. Type II collagen is an important component of the eye and mature cartilage tissue. The size and arrangement of type II collagen fibrils is essential for the normal structure of these tissues.
How are changes in the COL11A1 gene related to health conditions?
Where is the COL11A1 gene located?
Cytogenetic Location: 1p21
Molecular Location on chromosome 1: base pairs 102,876,466 to 103,108,495
The COL11A1 gene is located on the short (p) arm of chromosome 1 at position 21.
More precisely, the COL11A1 gene is located from base pair 102,876,466 to base pair 103,108,495 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL11A1?
You and your healthcare professional may find the following resources about COL11A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the COL11A1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding COL11A1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.